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Child with global developmental delay presenting with autistic features
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  1. Ruziana Masiran1,2 and
  2. Mohamad Nizam Adha Ilias2
  1. 1Department of Psychiatry, Universiti Putra Malaysia, Serdang, Selangor, Malaysia
  2. 2Department of Psychiatry, Hospital Sultan Abdul Aziz Shah, Serdang, Selangor, Malaysia
  1. Correspondence to Dr Ruziana Masiran; ruziana_m{at}upm.edu.my

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Description

A school-aged girl with underlying global developmental delay (GDD) diagnosed during her early childhood presented to the psychiatrist with repetitive disruptive behaviour of hitting her face with her own hands for one year duration. Her parents noticed that these behaviours would often be triggered when she was introduced to a new place or left alone in her room. She also had insomnia. During examination, the child appeared distracted and could not form meaningful eye contact. She was crying as she was entering the consultation room. She repeatedly placed her palms over her mouth, sometimes licking her palms (see video 1). There was also an increasing frequency of hitting one hand with another palm of her hand. She was not able to verbalise any comprehensible words. Antenatally, her conception was unexpected, as her mother had earlier performed bilateral tubal ligation after her fifth delivery. There was evidence of intrauterine growth retardation, but she was born at term via elective caesarean section, weighing only 2 kg. She then developed severe neonatal jaundice and received phototherapy. She developed epilepsy when she was three year-old, which was controlled with syrup epilim 200 mg twice a day. Her last seizure was one year before the psychiatric contact. She had hypothyroidism when she was four year-old, controlled with oral L-thyroxine 25 mcg once a day. There were gross motor, fine motor, and social communication development delays. There is no family history of neurodevelopmental problems. Following psychiatric assessment, the child was diagnosed with intellectual disability (ID) with autistic features. This diagnosis was based on the marked social communication deficits and stereotypical patterns of behaviours that were similar to stimming in autism spectrum disorder (ASD) developed recently. She was prescribed oral risperidone 0.5 mg at night, with which her sleep and disruptive behaviours improved.

Video 1 Repetitive behaviours of the child in the clinic.

A child with GDD may also be diagnosed with ASD. The child in this report had multiple congenital and neonatal issues, which predisposed her to GDD.1 Furthermore, children with GDD who have lower developmental levels are more likely to have autistic features.2 Children with ASD and GDD have lower than expected abilities in ‘learning, language and communication, eye and hand coordination, socio-emotional and gross motor’.3 The lack of early development of socialisation and communication skills and the presence of restricted and repetitive behaviours helps to discriminate children with ASD from children with GDD without autistic features.4 On the contrary, a typical GDD child is less likely to engage in repetitive behaviours and will respond more appropriately during social interactions, unlike the illustrated child. The prevalence of comorbidity rate of ASD in children with GDD is as high as 62.3%.2 As children with GDD or ID frequently have comorbid medical diagnoses such as epilepsy and muscle spasticity, genetic testing has been advocated.5 However, choosing such an investigation might not be cost-effective in developing countries.

Patient’s perspective

“We have resorted to applying medicated oil on her hand to prevent her from using it to hit hear head, and also putting on gloves, but these were unsuccessful” – from the child’s mother.

Learning points

  • Clinicians may find diagnosing autism spectrum disorder(ASD) in a child with globally developmentally delay (GDD) an arduous task.

  • A child having both features of GDD and ASD may present with more challenging disruptive behaviours requiring aggressive pharmacotherapeutic interventions.

  • Managing disruptive behaviours in children on the spectrum requires a collaborative approach with parents and families.

Ethics statements

Patient consent for publication

References

Footnotes

  • Contributors RM and MNAI co-managed the case. MNAI prepared the preliminary manuscript draft and RM completed the final draft.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.